eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0029124|optic atrophy |
| Sentences | 1 |
| PubMedID- 26000322 | Taken together, our findings identified echs1 mutations as a cause of a new clinical entity characterized by an early onset, very severe (leigh-like) mitochondrial encephalopathy with deafness, epilepsy, optic atrophy, and cardiomyopathy. |
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